loading...| Preferred Name |
Thyroid hypoplasia |
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| Synonyms |
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| Definitions |
Thyroid hypoplasia is a form of thyroid dysgenesis (see this term) characterized by incomplete development of the thyroid gland that results in primary congenital hypothyroidism (see this term), a permanent thyroid deficiency that is present from birth. |
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| ID |
http://www.orpha.net/ORDO/Orphanet_95720 |
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| definition |
Thyroid hypoplasia is a form of thyroid dysgenesis (see this term) characterized by incomplete development of the thyroid gland that results in primary congenital hypothyroidism (see this term), a permanent thyroid deficiency that is present from birth. |
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| definition_citation |
Orphanet |
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| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=95720 |
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| has_age_of_onset |
Infancy Neonatal |
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| has_inheritance |
Not applicable Autosomal dominant |
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| hasDbXref |
OMIM:225250 ICD-10:E03.1 OMIM:218700 UMLS:C0151516 MedDRA:10065938 ICD-11:5A00.01 |
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| label |
Thyroid hypoplasia |
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| notation |
ORPHA:95720 |
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| part_of | ||
| prefixIRI |
ORDO:Orphanet_95720 |
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| prefLabel |
Thyroid hypoplasia |
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| present_in |
Worldwide AND has_point_prevalence_average_value : 3.5 AND has_point_prevalence_range : 1-9 / 100 000 |
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| treeView | ||
| subClassOf |